ClinVar Miner

Variants studied for Inflammatory bowel disease 28

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
19 7 210 180 39 1 428

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
IL10RA 16 6 205 179 39 1 418
IL10RA, LOC130006833 2 1 3 1 0 0 7
ARCN1, ATP5MG, BCL9L, CD3D, CD3E, CD3G, CENATAC, CXCR5, DDX6, DPAGT1, FOXR1, H2AX, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MPZL2, MPZL3, PHLDB1, RPS25, SCN2B, SCN4B, SLC37A4, TMEM25, TMPRSS4, TRAPPC4, TREH, TTC36, UBE4A, UPK2, VPS11 1 0 1 0 0 0 2
ABCG4, APOA1, APOA4, APOC3, ARCN1, ARHGEF12, ATP5MG, BACE1, BCL9L, C1QTNF5, C2CD2L, CBL, CD3D, CD3E, CD3G, CENATAC, CEP164, CXCR5, DDX6, DPAGT1, DRC12, DSCAML1, FOXR1, FXYD2, FXYD6, FXYD6-FXYD2, GRIK4, H2AX, HINFP, HMBS, HYOU1, IFT46, IL10RA, JAML, KMT2A, MCAM, MFRP, MPZL2, MPZL3, NECTIN1, NHERF4, NLRX1, OAF, PAFAH1B2, PCSK7, PHLDB1, POU2F3, RNF214, RNF26, RPS25, SC5D, SCN2B, SCN4B, SIDT2, SIK3, SLC37A4, SORL1, TAGLN, TBCEL, TECTA, THY1, TLCD5, TMEM25, TMPRSS13, TMPRSS4, TRAPPC4, TREH, TRIM29, TTC36, UBE4A, UPK2, USP2, VPS11 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 16 3 161 167 33 0 380
Illumina Laboratory Services, Illumina 0 0 62 12 20 0 94
Fulgent Genetics, Fulgent Genetics 0 0 3 2 0 0 5
OMIM 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 2 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 3 1 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 3
Revvity Omics, Revvity 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 0 0 0 0 0 1
Aleixo Muise Laboratory, Hospital For Sick Children 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1

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